Ambry Genetics Virtual Booth ACMG 2020

Welcome to our Virtual Booth

Thank you for stopping by! Below you will find information on our research that was accepted by ACMG, along with some new and exciting things happening at Ambry. We hope that you are staying safe and healthy.



1) Genetic Testing Utilization Management: Saving Time, Saving Money, And Maximizing Clinical Utility For Patients- A Commercial Lab Experience (Chao E et al)
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2) Exome Reanalysis Results In An 8% Reclassification Rate (Hagman K et al)
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3) Practical Applications Of RNA Genetic Testing For Variant Detection And Interpretation: A Case Series (Basel D)
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4) Diagnostic Exome Sequencing In Adults With Neurological Disorders (Kirsten Blanco et al)
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5) Creating An Open-source Gene Curation Database From The Gene Curation Coalition (GenCC) (DiStefano M et al)
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6) Identification Of An Alu Insertion In MSH2 By Next-Generation Sequencing In A Family With Lynch Syndrome: An 8-year Diagnostic Odyssey (Jacquart A et al)
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Oral Presentation:

Predicted Truncating Variants In SMARCA4 May Be Innocent: The Importance Of Multi-institutional Collaboration (Witkowski Leora et al)
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Telemedicine and Digital Resources

We& provide direct-to-patient ordering options to have a saliva kit shipped directly to your patient!

To learn more about our telemedicine options:

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To view our 60 minute webinar: 

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To view our library of webinars, click here


Unsolved Mysteries Program for +RNAinsight

Do you have a patient with a strong clinical history suggestive of hereditary cancer, but surprisingly, no identifiable genetic explanation? As part of our continued commitment to finding answers for patients and families, Ambry Genetics® is making no cost genetic testing with +RNAinsight® available for 25 selected high-risk patients with previously negative genetic test results through our Unsolved Mysteries Program. 
Submit your patient(s) by May 30, 2020 here


Other +RNAinsight Resources

To view our latest webinar on RNA genetic testing:

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Check out our latest +RNAinsight study:

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+RNAinsight improves the sensitivity and clarity of genetic testing. It blog imageworks in tandem with Ambry Genetics’ DNA testing to identify patients with or at-risk for hereditary cancer who might otherwise be missed, decrease variants of unknown significance in real-time, and provide more accurate results to inform patient care.

For more information about the benefits of +RNAinsight, visit



Patient Website

NEW! Visit our new patient website with improved navigation and streamlined resources that may benefit your patients and their family members:


Find Answers & Improve Patient Care

Ambry is committed to delivering the most accurate genetic test results possible. Learn more about our products today.

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The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.


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